NPC1

NPC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3GKH, 3GKI, 3GKJ, 5F1B, 5F18, 5HNS, 3JD8, 5I31, 5JNX
Identifiers
Aliases	NPC1, NPC, NPC intracellular cholesterol transporter 1, SLC65A1, POGZ
External IDs	OMIM: 607623; MGI: 1097712; HomoloGene: 228; GeneCards: NPC1; OMA:NPC1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q11.2 Start 23,506,184 bp[1] End 23,586,506 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 A1|18 6.15 cM Start 12,322,749 bp[2] End 12,369,457 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte middle frontal gyrus corpus callosum C1 segment cartilage tissue right adrenal cortex left adrenal cortex inferior ganglion of vagus nerve parotid gland internal globus pallidus Top expressed in secondary oocyte muscle of thigh stroma of bone marrow primary oocyte zygote interventricular septum hair follicle otic vesicle saccule yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function virus receptor activity lipid transporter activity sterol transporter activity cholesterol binding protein binding transmembrane signaling receptor activity signaling receptor activity Cellular component integral component of membrane vesicle endosome Golgi apparatus nuclear envelope membrane late endosome membrane plasma membrane integral component of plasma membrane extracellular region endoplasmic reticulum perinuclear region of cytoplasm membrane raft lysosome extracellular exosome lysosomal membrane integral component of lysosomal membrane Biological process cellular response to steroid hormone stimulus steroid metabolic process response to cadmium ion endocytosis negative regulation of macroautophagy lipid metabolism bile acid metabolic process cholesterol transport establishment of protein localization to membrane cellular response to low-density lipoprotein particle stimulus cholesterol metabolic process negative regulation of cell death autophagy protein glycosylation membrane raft organization cholesterol efflux lysosomal transport viral entry into host cell cholesterol homeostasis viral process adult walking behavior signal transduction low-density lipoprotein particle clearance intracellular cholesterol transport lipid transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4864 18145 Ensembl ENSG00000141458 ENSMUSG00000024413 UniProt O15118 O35604 RefSeq (mRNA) NM_000271 NM_008720 RefSeq (protein) NP_000262 NP_032746 Location (UCSC) Chr 18: 23.51 – 23.59 Mb Chr 18: 12.32 – 12.37 Mb PubMed search [3] [4]
Wikidata
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Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene (chromosome location 18q11).^[5][6]